1. Genes and Genomic Entities
  2. NUP214

NUP214

nucleoporin 214
OMIM: 114350, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red NUP214 in COVID-19 research


Level 2: Viral research
Version 1.142

review Not set
Sources
  • OMIM
Phenotypes
  • {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426
Green NUP214 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
  • encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742
Green NUP214 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Acute Febrile Encephalopathy 618426
    Green NUP214 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
    • encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742
    Green NUP214 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • developmental delay
    • intellectual disability
    • epileptic encephalopathy
    • developmental regression
    • microcephaly
    • {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426